Clinical Neuropathology最新文献

Rhabdomyomatous mesenchymal hamartoma in association with spinal dysraphism in an infant.

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-04-01 DOI: 10.5414/NP301652

Rachel Lockhart, Tafadzwa Mandiwanza, Alan Beausang

引用次数: 0

Synchronous pituitary neuroendocrine tumors (PitNETs)/adenomas of triple SF1/PIT1/TPIT cell lineages with multiple hormone expression.

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-04-01 DOI: 10.5414/NP301630

Valérie Quinot, Johannes Herta, Alexander Stiglbauer-Tscholakoff, Florian W Kiefer, Johannes A Hainfellner

{"title":"Synchronous pituitary neuroendocrine tumors (PitNETs)/adenomas of triple SF1/PIT1/TPIT cell lineages with multiple hormone expression.","authors":"Valérie Quinot, Johannes Herta, Alexander Stiglbauer-Tscholakoff, Florian W Kiefer, Johannes A Hainfellner","doi":"10.5414/NP301630","DOIUrl":"10.5414/NP301630","url":null,"abstract":"Synchronous multiple pituitary neuroendocrine tumors (PitNETs)/adenomas are rare tumors of the anterior pituitary that are characterized by the expression of more than one pituitary transcription factor. Here, we describe and discuss an unusual case of synchronous multiple PitNETs/adenomas of triple SF1/PIT1/TPIT cell lineages. Clinical case presentation was that of a pituitary macroadenoma in a 69-year-old male patient suffering from visual impairment and high prolactin levels. Radiology featured a large, 3 × 2.5 × 3.5 cm suprasellar mass with a biphasic growth pattern. Transsphenoidal resection showed varying macroscopic appearances between anterior and posterior aspects of the tumor, which was confirmed on histology. Immunohistochemistry demonstrated varying expression of steroidogenic factor 1 (SF1) and T-box transcription factor (TPIT) in the anterior part of the tumor, while the posterior aspect of the tumor showed predominant expression of pituitary transcription factor 1 (PIT1). Immunofluorescence showed no colocalization of the different transcription factors in individual tumor cells. Hormone expression comprised FSH and α-subunit (in the SF1-positive components), prolactin (in the PIT1-positive components), and ACTH (in the TPIT-positive components). 6-months post-operative follow-up under treatment with cabergoline led further tumor mass reduction and significant decrease in prolactin levels. In sum, our case study expands existing data on synchronous PitNETs/adenomas of triple SF1/PIT1/TPIT cell lineages, and underscores the importance of comprehensive clinicopathological data assessment and synoptic interpretation. Further, we address so-far published literature on multilineage PitNETs, and suggest that existing pathophysiological knowledge would argue to interpret the findings in our case as synchronous PitNETs / adenomas of different cell lineages with multiple hormone expression.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143756080","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Highly infiltrative brain metastasis of RET mutant lung primary: Morphometric assessment and molecular review.

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-03-21 DOI: 10.5414/NP301658

Tayler Gant, Serguei Bannykh

{"title":"Highly infiltrative brain metastasis of RET mutant lung primary: Morphometric assessment and molecular review.","authors":"Tayler Gant, Serguei Bannykh","doi":"10.5414/NP301658","DOIUrl":"10.5414/NP301658","url":null,"abstract":"Aims: Histologic differentiation between primary brain tumors and metastases is an important aspect of intraoperative consultation. We present a case of metastatic carcinoma with microscopic features overlapping with that of an infiltrative glioma.Materials and methods: We present a case of a 51-year-old female with a history of recurrent metastatic non-small cell lung carcinoma (NSCLC). We developed a morphometric approach to contrast the pattern of brain invasion of our index case to that of CNS WHO grade 4, IDH1 R132H mutant astrocytoma, diffuse large B-cell lymphoma (DLBCL), melanoma, and other adenocarcinomas of the lung primary. We designed two novel parameters: number of tumor cells per cluster and percentage of mutual overlap by tumor cells, to quantitatively assess the degree of brain infiltration and invasion of each malignancy. Next, we analyzed our Institutional Database of the molecular findings for all primary lung metastasis to the brain with in-house next-generation sequencing (NGS) panel.Results and conclusion: Carcinoma and melanoma showed the largest cluster sizes of cells with an average cluster size of 238 ± 32 and 41 ± 5 cells, and DLBCL had an average of 3.2 ± 0.3 cells per cluster. When we compared extent of cell-to-cell coverage, DLBCL had the largest coverage with an average of 90 ± 8%, adenocarcinoma of the lung had 85 ± 7%, and melanoma had 55 ± 5%. The infiltrative features in this case are commonly seen in diffuse gliomas and are not characteristic of metastases. The molecular findings of co-mutation of RET and TP53 suggest these could emerge as possible drivers of a more infiltrative growth pattern.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143675008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical and molecular assessment of cystic sellar salivary gland-like lesions.

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-02-10 DOI: 10.5414/NP301668

Joanne Lin, Timothy H Ung, Kurtis D Davies, Christie G Turin, Bette K Kleinschmidt-DeMasters

{"title":"Clinical and molecular assessment of cystic sellar salivary gland-like lesions.","authors":"Joanne Lin, Timothy H Ung, Kurtis D Davies, Christie G Turin, Bette K Kleinschmidt-DeMasters","doi":"10.5414/NP301668","DOIUrl":"10.5414/NP301668","url":null,"abstract":"Background: Symptomatic sellar salivary gland-like lesions (SSGLs) are uncommon, with fewer than two dozen case reports. Prior case reports have also not detailed pre- or postoperative endocrinopathies to determine if these lesions can be clinically distinguished prior to biopsy from Rathke cleft cysts (RCCs). In addition, prior molecular testing was attempted to provide further insights as to whether these might be developmental lesions or true neoplasms, but testing was unsuccessful.Materials and methods: Report of 2 new cases of SSGLs with molecular testing to assess for potential gene mutations, copy number alterations, and fusions with literature review detailing demographic, clinical, endocrinological, neuroimaging, histological, and outcome features.Results: A 53-year-old female and 33-year-old male developed large sellar lesions. The woman presented with fatigue and sudden-onset visual changes and the man with apoplectic-like severe headache. Biopsy specimens for both patients demonstrated clusters of histologically benign salivary gland-like acini accompanied by varying amounts of mucin and lymphocytic inflammation. None showed pituitary tumor. Postoperatively, one case developed persistent diabetes insipidus. Molecular testing revealed a lack of pathogenic mutations, copy number alterations, or gene fusions in both cases.Conclusion: SGGLs differ histologically and sometimes in size from RCCs, although both can be cystic, contain abundant mucin, and may result in postoperative transient or permanent diabetes insipidus; they cannot be completely distinguished preoperatively from RCCs. Molecular testing did not demonstrate any mutations, copy number changes, or fusions for either case. Lack of pathogenic genetic alterations suggest these lesions may not be true neoplasms.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143383703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cerebellar liponeurocytoma: An updated comprehensive review of clinicopathologic, immunohistochemical, and molecular features of an unusual but distinct tumor.

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-01-01 DOI: 10.5414/NP301660

Giuseppe Broggi, Serena Salzano, Manuel Mazzucchelli, Giovanni Nunzio Rosano, Gaetano Magro, Rosario Caltabiano, Valeria Barresi

{"title":"Cerebellar liponeurocytoma: An updated comprehensive review of clinicopathologic, immunohistochemical, and molecular features of an unusual but distinct tumor.","authors":"Giuseppe Broggi, Serena Salzano, Manuel Mazzucchelli, Giovanni Nunzio Rosano, Gaetano Magro, Rosario Caltabiano, Valeria Barresi","doi":"10.5414/NP301660","DOIUrl":"10.5414/NP301660","url":null,"abstract":"Cerebellar liponeurocytoma (CL) is a rare WHO grade 2 tumor characterized by advanced neuronal differentiation and variable lipomatous features. Initially classified as a subtype of medulloblastoma, CL was later considered as a distinct entity owing to its peculiar morphological and molecular features and significant better outcome. Typically affecting adults, CL often presents with symptoms related to cerebellar dysfunction, including headaches, ataxia, and gait disturbances. On magnetic resonance imaging, this tumor presents as a well-defined, heterogeneous mass with lipomatous components, which may be less or more apparent depending on their extent. Histologically, CL is composed of neurocytic cells and lipidized tumor cells; the immunohistochemical positivity for synaptophysin and NeuN confirms the neuronal differentiation of neoplastic cells. In spite of its morphological similarity to medulloblastoma, CL lacks the genetic alterations commonly found in this tumor, but some cases display TP53 mutations. Complete surgical resection is the gold standard treatment, whereas the benefit of adjuvant radiotherapy is controversial. CL generally harbors a favorable prognosis, with low recurrence rates in cases with incomplete resection or high proliferative index. The present paper comprehensively reviews the literature about CL, emphasizing the clinicopathologic and molecular features of this unusual but distinct neuropathological entity.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"26-37"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143383517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical Neuropathology 1-2025.

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-01-01 DOI: 10.5414/NPP44001

Christian Mawrin

引用次数: 0

Cerebellar chromoblastomycosis in an immunocompetent individual: A rare case report with brief literature review.

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-01-01 DOI: 10.5414/NP301643

Mousumi Biswas, Arun Gowda Keelara, Shruti Gupta, Niraj Kumari

引用次数: 0

A rare case of glomus tumor of uncertain malignant potential of orbit with BRAF oncogenic mutation in a young female. 一例罕见的眼眶恶性潜能不确定的血管球瘤伴BRAF致癌突变的年轻女性。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-01-01 DOI: 10.5414/NP301653

Sathyakumar Rima, Rangasamy Thiruvengadam Rajeswarie, Saritha Aryan, Prashant Alle

引用次数: 0

Sural nerve injury in Behçet's disease patients treated with thalidomide.

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-01-01 DOI: 10.5414/NP301657

Hui Wang, Jinjun Luo, Yun Yuan, Lingchao Meng

{"title":"Sural nerve injury in Behçet's disease patients treated with thalidomide.","authors":"Hui Wang, Jinjun Luo, Yun Yuan, Lingchao Meng","doi":"10.5414/NP301657","DOIUrl":"10.5414/NP301657","url":null,"abstract":"Introduction: Thalidomide has shown exceptional results in the management of Behçet's disease. Despite its efficacy, thalidomide is associated with a number of adverse effects, including peripheral neuropathy. This study aims to characterize the pathologic features of neuropathy in Behçet's disease patients who received thalidomide therapy.Materials and methods: Consecutive adult Behçet's disease patients who received thalidomide and developed neuropathy were collected. Clinical manifestations, electrophysiologic evaluations, and pathologic findings were studied.Results: Three patients who met the inclusion criteria were collected. Sensory deficits, particularly in the lower extremities, emerged in a length-dependent manner 6 - 12 months after initiation of thalidomide therapy. Symptoms remained unchanged after discontinuation of thalidomide for 2 years. Electrophysiologic evaluations showed sensory axonal polyneuropathy in all 3 patients who also received sural nerve biopsy. Histological findings confirmed axonal degenerations. A noteworthy finding was neurofilament accumulation in both myelinated and unmyelinated axons.Discussion: Sensory fibers, particularly in the lower extremities, were susceptible to thalidomide therapy. The features of thalidomide-induced neuropathy are characterized as axonal degeneration.Conclusion: Earlier recognition of thalidomide-induced sensory axonal neuropathy should be carried out in patients with Behçet's disease during the thalidomide therapy.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"2-8"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143383774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Molecular evolution of metastatic meningioma: A case report.

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-01-01 DOI: 10.5414/NP301669

Julian Kahr, Klaus-Peter Stein, Peter John, Torsten Walles, Martin Roepke, Belal Neyazi, I Erol Sandalcioglu, David R Raleigh, Christian Mawrin

引用次数: 0